Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891753T>ACA409805482APPn.2147A>T
n.577A>T
n.846A>T
c.2180A>T (p.Gln727Leu)
c.1955A>T (p.Gln652Leu)
c.1787A>T (p.Gln596Leu)
c.2123A>T (p.Gln708Leu)
c.2126A>T (p.Gln709Leu)
c.1850A>T (p.Gln617Leu)
c.2012A>T (p.Gln671Leu)
c.2108A>T (p.Gln703Leu)
n.527A>T
c.2069A>T (p.Gln690Leu)
c.1901A>T (p.Gln634Leu)
COSMIC
21g.25891753T>CCA409805483APPn.2147A>G
n.577A>G
n.846A>G
c.2180A>G (p.Gln727Arg)
c.1955A>G (p.Gln652Arg)
c.1787A>G (p.Gln596Arg)
c.2123A>G (p.Gln708Arg)
c.2126A>G (p.Gln709Arg)
c.1850A>G (p.Gln617Arg)
c.2012A>G (p.Gln671Arg)
c.2108A>G (p.Gln703Arg)
n.527A>G
c.2069A>G (p.Gln690Arg)
c.1901A>G (p.Gln634Arg)
21g.25891753T>GCA409805484APPn.2147A>C
n.577A>C
n.846A>C
c.2180A>C (p.Gln727Pro)
c.1955A>C (p.Gln652Pro)
c.1787A>C (p.Gln596Pro)
c.2123A>C (p.Gln708Pro)
c.2126A>C (p.Gln709Pro)
c.1850A>C (p.Gln617Pro)
c.2012A>C (p.Gln671Pro)
c.2108A>C (p.Gln703Pro)
n.527A>C
c.2069A>C (p.Gln690Pro)
c.1901A>C (p.Gln634Pro)
21g.25891754G>ACA409805485APPn.2146C>T
n.576C>T
n.845C>T
c.2179C>T (p.Gln727Ter)
c.1954C>T (p.Gln652Ter)
c.1786C>T (p.Gln596Ter)
c.2122C>T (p.Gln708Ter)
c.2125C>T (p.Gln709Ter)
c.1849C>T (p.Gln617Ter)
c.2011C>T (p.Gln671Ter)
c.2107C>T (p.Gln703Ter)
n.526C>T
c.2068C>T (p.Gln690Ter)
c.1900C>T (p.Gln634Ter)
21g.25891754G>CCA409805486APPn.2146C>G
n.576C>G
n.845C>G
c.2179C>G (p.Gln727Glu)
c.1954C>G (p.Gln652Glu)
c.1786C>G (p.Gln596Glu)
c.2122C>G (p.Gln708Glu)
c.2125C>G (p.Gln709Glu)
c.1849C>G (p.Gln617Glu)
c.2011C>G (p.Gln671Glu)
c.2107C>G (p.Gln703Glu)
n.526C>G
c.2068C>G (p.Gln690Glu)
c.1900C>G (p.Gln634Glu)
21g.25891754G>TCA409805487APPn.2146C>A
n.576C>A
n.845C>A
c.2179C>A (p.Gln727Lys)
c.1954C>A (p.Gln652Lys)
c.1786C>A (p.Gln596Lys)
c.2122C>A (p.Gln708Lys)
c.2125C>A (p.Gln709Lys)
c.1849C>A (p.Gln617Lys)
c.2011C>A (p.Gln671Lys)
c.2107C>A (p.Gln703Lys)
n.526C>A
c.2068C>A (p.Gln690Lys)
c.1900C>A (p.Gln634Lys)
21g.25891755T>ACA409805488APPn.2145A>T
n.575A>T
n.844A>T
c.2178A>T (p.Lys726Asn)
c.1953A>T (p.Lys651Asn)
c.1785A>T (p.Lys595Asn)
c.2121A>T (p.Lys707Asn)
c.2124A>T (p.Lys708Asn)
c.1848A>T (p.Lys616Asn)
c.2010A>T (p.Lys670Asn)
c.2106A>T (p.Lys702Asn)
n.525A>T
c.2067A>T (p.Lys689Asn)
c.1899A>T (p.Lys633Asn)
21g.25891755T>CCA511685974APPn.2145A>G
n.575A>G
n.844A>G
c.2178A>G (p.Lys726=)
c.1953A>G (p.Lys651=)
c.1785A>G (p.Lys595=)
c.2121A>G (p.Lys707=)
c.2124A>G (p.Lys708=)
c.1848A>G (p.Lys616=)
c.2010A>G (p.Lys670=)
c.2106A>G (p.Lys702=)
n.525A>G
c.2067A>G (p.Lys689=)
c.1899A>G (p.Lys633=)
21g.25891755T>GCA409805489APPn.2145A>C
n.575A>C
n.844A>C
c.2178A>C (p.Lys726Asn)
c.1953A>C (p.Lys651Asn)
c.1785A>C (p.Lys595Asn)
c.2121A>C (p.Lys707Asn)
c.2124A>C (p.Lys708Asn)
c.1848A>C (p.Lys616Asn)
c.2010A>C (p.Lys670Asn)
c.2106A>C (p.Lys702Asn)
n.525A>C
c.2067A>C (p.Lys689Asn)
c.1899A>C (p.Lys633Asn)
21g.25891756T>ACA409805490APPn.2144A>T
n.574A>T
n.843A>T
c.2177A>T (p.Lys726Ile)
c.1952A>T (p.Lys651Ile)
c.1784A>T (p.Lys595Ile)
c.2120A>T (p.Lys707Ile)
c.2123A>T (p.Lys708Ile)
c.1847A>T (p.Lys616Ile)
c.2009A>T (p.Lys670Ile)
c.2105A>T (p.Lys702Ile)
n.524A>T
c.2066A>T (p.Lys689Ile)
c.1898A>T (p.Lys633Ile)
21g.25891756T>CCA409805492APPn.2144A>G
n.574A>G
n.843A>G
c.2177A>G (p.Lys726Arg)
c.1952A>G (p.Lys651Arg)
c.1784A>G (p.Lys595Arg)
c.2120A>G (p.Lys707Arg)
c.2123A>G (p.Lys708Arg)
c.1847A>G (p.Lys616Arg)
c.2009A>G (p.Lys670Arg)
c.2105A>G (p.Lys702Arg)
n.524A>G
c.2066A>G (p.Lys689Arg)
c.1898A>G (p.Lys633Arg)
21g.25891756T>GCA409805491APPn.2144A>C
n.574A>C
n.843A>C
c.2177A>C (p.Lys726Thr)
c.1952A>C (p.Lys651Thr)
c.1784A>C (p.Lys595Thr)
c.2120A>C (p.Lys707Thr)
c.2123A>C (p.Lys708Thr)
c.1847A>C (p.Lys616Thr)
c.2009A>C (p.Lys670Thr)
c.2105A>C (p.Lys702Thr)
n.524A>C
c.2066A>C (p.Lys689Thr)
c.1898A>C (p.Lys633Thr)
21g.25891757T>ACA409805493APPn.2143A>T
n.573A>T
n.842A>T
c.2176A>T (p.Lys726Ter)
c.1951A>T (p.Lys651Ter)
c.1783A>T (p.Lys595Ter)
c.2119A>T (p.Lys707Ter)
c.2122A>T (p.Lys708Ter)
c.1846A>T (p.Lys616Ter)
c.2008A>T (p.Lys670Ter)
c.2104A>T (p.Lys702Ter)
n.523A>T
c.2065A>T (p.Lys689Ter)
c.1897A>T (p.Lys633Ter)
21g.25891757T>CCA409805494APPn.2143A>G
n.573A>G
n.842A>G
c.2176A>G (p.Lys726Glu)
c.1951A>G (p.Lys651Glu)
c.1783A>G (p.Lys595Glu)
c.2119A>G (p.Lys707Glu)
c.2122A>G (p.Lys708Glu)
c.1846A>G (p.Lys616Glu)
c.2008A>G (p.Lys670Glu)
c.2104A>G (p.Lys702Glu)
n.523A>G
c.2065A>G (p.Lys689Glu)
c.1897A>G (p.Lys633Glu)
21g.25891757T>GCA409805495APPn.2143A>C
n.573A>C
n.842A>C
c.2176A>C (p.Lys726Gln)
c.1951A>C (p.Lys651Gln)
c.1783A>C (p.Lys595Gln)
c.2119A>C (p.Lys707Gln)
c.2122A>C (p.Lys708Gln)
c.1846A>C (p.Lys616Gln)
c.2008A>C (p.Lys670Gln)
c.2104A>C (p.Lys702Gln)
n.523A>C
c.2065A>C (p.Lys689Gln)
c.1897A>C (p.Lys633Gln)
21g.25891758C>ACA409805496APPn.2142G>T
n.572G>T
n.841G>T
c.2175G>T (p.Lys725Asn)
c.1950G>T (p.Lys650Asn)
c.1782G>T (p.Lys594Asn)
c.2118G>T (p.Lys706Asn)
c.2121G>T (p.Lys707Asn)
c.1845G>T (p.Lys615Asn)
c.2007G>T (p.Lys669Asn)
c.2103G>T (p.Lys701Asn)
n.522G>T
c.2064G>T (p.Lys688Asn)
c.1896G>T (p.Lys632Asn)
21g.25891758C=CA2383551603APPn.2142G=
n.572G=
n.841G=
c.2175G= (p.Lys725=)
c.1950G= (p.Lys650=)
c.1782G= (p.Lys594=)
c.2118G= (p.Lys706=)
c.2121G= (p.Lys707=)
c.1845G= (p.Lys615=)
c.2007G= (p.Lys669=)
c.2103G= (p.Lys701=)
n.522G=
c.2064G= (p.Lys688=)
c.1896G= (p.Lys632=)
21g.25891758C>GCA409805497APPn.2142G>C
n.572G>C
n.841G>C
c.2175G>C (p.Lys725Asn)
c.1950G>C (p.Lys650Asn)
c.1782G>C (p.Lys594Asn)
c.2118G>C (p.Lys706Asn)
c.2121G>C (p.Lys707Asn)
c.1845G>C (p.Lys615Asn)
c.2007G>C (p.Lys669Asn)
c.2103G>C (p.Lys701Asn)
n.522G>C
c.2064G>C (p.Lys688Asn)
c.1896G>C (p.Lys632Asn)
ClinVar dbSNP gnomAD v4
21g.25891758C>TCA511685975APPn.2142G>A
n.572G>A
n.841G>A
c.2175G>A (p.Lys725=)
c.1950G>A (p.Lys650=)
c.1782G>A (p.Lys594=)
c.2118G>A (p.Lys706=)
c.2121G>A (p.Lys707=)
c.1845G>A (p.Lys615=)
c.2007G>A (p.Lys669=)
c.2103G>A (p.Lys701=)
n.522G>A
c.2064G>A (p.Lys688=)
c.1896G>A (p.Lys632=)
dbSNP
21g.25891759T>ACA409805498APPn.2141A>T
n.571A>T
n.840A>T
c.2174A>T (p.Lys725Met)
c.1949A>T (p.Lys650Met)
c.1781A>T (p.Lys594Met)
c.2117A>T (p.Lys706Met)
c.2120A>T (p.Lys707Met)
c.1844A>T (p.Lys615Met)
c.2006A>T (p.Lys669Met)
c.2102A>T (p.Lys701Met)
n.521A>T
c.2063A>T (p.Lys688Met)
c.1895A>T (p.Lys632Met)
21g.25891759T>CCA409805499APPn.2141A>G
n.571A>G
n.840A>G
c.2174A>G (p.Lys725Arg)
c.1949A>G (p.Lys650Arg)
c.1781A>G (p.Lys594Arg)
c.2117A>G (p.Lys706Arg)
c.2120A>G (p.Lys707Arg)
c.1844A>G (p.Lys615Arg)
c.2006A>G (p.Lys669Arg)
c.2102A>G (p.Lys701Arg)
n.521A>G
c.2063A>G (p.Lys688Arg)
c.1895A>G (p.Lys632Arg)
gnomAD v4
21g.25891759T>GCA409805500APPn.2141A>C
n.571A>C
n.840A>C
c.2174A>C (p.Lys725Thr)
c.1949A>C (p.Lys650Thr)
c.1781A>C (p.Lys594Thr)
c.2117A>C (p.Lys706Thr)
c.2120A>C (p.Lys707Thr)
c.1844A>C (p.Lys615Thr)
c.2006A>C (p.Lys669Thr)
c.2102A>C (p.Lys701Thr)
n.521A>C
c.2063A>C (p.Lys688Thr)
c.1895A>C (p.Lys632Thr)
21g.25891760T>ACA409805501APPn.2140A>T
n.570A>T
n.839A>T
c.2173A>T (p.Lys725Ter)
c.1948A>T (p.Lys650Ter)
c.1780A>T (p.Lys594Ter)
c.2116A>T (p.Lys706Ter)
c.2119A>T (p.Lys707Ter)
c.1843A>T (p.Lys615Ter)
c.2005A>T (p.Lys669Ter)
c.2101A>T (p.Lys701Ter)
n.520A>T
c.2062A>T (p.Lys688Ter)
c.1894A>T (p.Lys632Ter)
21g.25891760T>CCA409805502APPn.2140A>G
n.570A>G
n.839A>G
c.2173A>G (p.Lys725Glu)
c.1948A>G (p.Lys650Glu)
c.1780A>G (p.Lys594Glu)
c.2116A>G (p.Lys706Glu)
c.2119A>G (p.Lys707Glu)
c.1843A>G (p.Lys615Glu)
c.2005A>G (p.Lys669Glu)
c.2101A>G (p.Lys701Glu)
n.520A>G
c.2062A>G (p.Lys688Glu)
c.1894A>G (p.Lys632Glu)
21g.25891760T>GCA409805503APPn.2140A>C
n.570A>C
n.839A>C
c.2173A>C (p.Lys725Gln)
c.1948A>C (p.Lys650Gln)
c.1780A>C (p.Lys594Gln)
c.2116A>C (p.Lys706Gln)
c.2119A>C (p.Lys707Gln)
c.1843A>C (p.Lys615Gln)
c.2005A>C (p.Lys669Gln)
c.2101A>C (p.Lys701Gln)
n.520A>C
c.2062A>C (p.Lys688Gln)
c.1894A>C (p.Lys632Gln)
21g.25891761C>ACA409805504APPn.2139G>T
n.569G>T
n.838G>T
c.2172G>T (p.Lys724Asn)
c.1947G>T (p.Lys649Asn)
c.1779G>T (p.Lys593Asn)
c.2115G>T (p.Lys705Asn)
c.2118G>T (p.Lys706Asn)
c.1842G>T (p.Lys614Asn)
c.2004G>T (p.Lys668Asn)
c.2100G>T (p.Lys700Asn)
n.519G>T
c.2061G>T (p.Lys687Asn)
c.1893G>T (p.Lys631Asn)
gnomAD v4
21g.25891761C=CA2383551604APPn.2139G=
n.569G=
n.838G=
c.2172G= (p.Lys724=)
c.1947G= (p.Lys649=)
c.1779G= (p.Lys593=)
c.2115G= (p.Lys705=)
c.2118G= (p.Lys706=)
c.1842G= (p.Lys614=)
c.2004G= (p.Lys668=)
c.2100G= (p.Lys700=)
n.519G=
c.2061G= (p.Lys687=)
c.1893G= (p.Lys631=)
21g.25891761C>GCA225514APPn.2139G>C
n.569G>C
n.838G>C
c.2172G>C (p.Lys724Asn)
c.1947G>C (p.Lys649Asn)
c.1779G>C (p.Lys593Asn)
c.2115G>C (p.Lys705Asn)
c.2118G>C (p.Lys706Asn)
c.1842G>C (p.Lys614Asn)
c.2004G>C (p.Lys668Asn)
c.2100G>C (p.Lys700Asn)
n.519G>C
c.2061G>C (p.Lys687Asn)
c.1893G>C (p.Lys631Asn)
ClinVar dbSNP
21g.25891761C>TCA511685976APPn.2139G>A
n.569G>A
n.838G>A
c.2172G>A (p.Lys724=)
c.1947G>A (p.Lys649=)
c.1779G>A (p.Lys593=)
c.2115G>A (p.Lys705=)
c.2118G>A (p.Lys706=)
c.1842G>A (p.Lys614=)
c.2004G>A (p.Lys668=)
c.2100G>A (p.Lys700=)
n.519G>A
c.2061G>A (p.Lys687=)
c.1893G>A (p.Lys631=)
dbSNP
21g.25891762T>ACA409805505APPn.2138A>T
n.568A>T
n.837A>T
c.2171A>T (p.Lys724Met)
c.1946A>T (p.Lys649Met)
c.1778A>T (p.Lys593Met)
c.2114A>T (p.Lys705Met)
c.2117A>T (p.Lys706Met)
c.1841A>T (p.Lys614Met)
c.2003A>T (p.Lys668Met)
c.2099A>T (p.Lys700Met)
n.518A>T
c.2060A>T (p.Lys687Met)
c.1892A>T (p.Lys631Met)
21g.25891762T>CCA409805507APPn.2138A>G
n.568A>G
n.837A>G
c.2171A>G (p.Lys724Arg)
c.1946A>G (p.Lys649Arg)
c.1778A>G (p.Lys593Arg)
c.2114A>G (p.Lys705Arg)
c.2117A>G (p.Lys706Arg)
c.1841A>G (p.Lys614Arg)
c.2003A>G (p.Lys668Arg)
c.2099A>G (p.Lys700Arg)
n.518A>G
c.2060A>G (p.Lys687Arg)
c.1892A>G (p.Lys631Arg)
21g.25891762T>GCA409805506APPn.2138A>C
n.568A>C
n.837A>C
c.2171A>C (p.Lys724Thr)
c.1946A>C (p.Lys649Thr)
c.1778A>C (p.Lys593Thr)
c.2114A>C (p.Lys705Thr)
c.2117A>C (p.Lys706Thr)
c.1841A>C (p.Lys614Thr)
c.2003A>C (p.Lys668Thr)
c.2099A>C (p.Lys700Thr)
n.518A>C
c.2060A>C (p.Lys687Thr)
c.1892A>C (p.Lys631Thr)
21g.25891763T>ACA409805508APPn.2137A>T
n.567A>T
n.836A>T
c.2170A>T (p.Lys724Ter)
c.1945A>T (p.Lys649Ter)
c.1777A>T (p.Lys593Ter)
c.2113A>T (p.Lys705Ter)
c.2116A>T (p.Lys706Ter)
c.1840A>T (p.Lys614Ter)
c.2002A>T (p.Lys668Ter)
c.2098A>T (p.Lys700Ter)
n.517A>T
c.2059A>T (p.Lys687Ter)
c.1891A>T (p.Lys631Ter)
21g.25891763T>CCA409805509APPn.2137A>G
n.567A>G
n.836A>G
c.2170A>G (p.Lys724Glu)
c.1945A>G (p.Lys649Glu)
c.1777A>G (p.Lys593Glu)
c.2113A>G (p.Lys705Glu)
c.2116A>G (p.Lys706Glu)
c.1840A>G (p.Lys614Glu)
c.2002A>G (p.Lys668Glu)
c.2098A>G (p.Lys700Glu)
n.517A>G
c.2059A>G (p.Lys687Glu)
c.1891A>G (p.Lys631Glu)
21g.25891763T>GCA409805510APPn.2137A>C
n.567A>C
n.836A>C
c.2170A>C (p.Lys724Gln)
c.1945A>C (p.Lys649Gln)
c.1777A>C (p.Lys593Gln)
c.2113A>C (p.Lys705Gln)
c.2116A>C (p.Lys706Gln)
c.1840A>C (p.Lys614Gln)
c.2002A>C (p.Lys668Gln)
c.2098A>C (p.Lys700Gln)
n.517A>C
c.2059A>C (p.Lys687Gln)
c.1891A>C (p.Lys631Gln)
21g.25891764C>ACA511685977APPn.2136G>T
n.566G>T
n.835G>T
c.2169G>T (p.Leu723=)
c.1944G>T (p.Leu648=)
c.1776G>T (p.Leu592=)
c.2112G>T (p.Leu704=)
c.2115G>T (p.Leu705=)
c.1839G>T (p.Leu613=)
c.2001G>T (p.Leu667=)
c.2097G>T (p.Leu699=)
n.516G>T
c.2058G>T (p.Leu686=)
c.1890G>T (p.Leu630=)
21g.25891764C>GCA511685978APPn.2136G>C
n.566G>C
n.835G>C
c.2169G>C (p.Leu723=)
c.1944G>C (p.Leu648=)
c.1776G>C (p.Leu592=)
c.2112G>C (p.Leu704=)
c.2115G>C (p.Leu705=)
c.1839G>C (p.Leu613=)
c.2001G>C (p.Leu667=)
c.2097G>C (p.Leu699=)
n.516G>C
c.2058G>C (p.Leu686=)
c.1890G>C (p.Leu630=)
gnomAD v4
21g.25891764C>TCA511685979APPn.2136G>A
n.566G>A
n.835G>A
c.2169G>A (p.Leu723=)
c.1944G>A (p.Leu648=)
c.1776G>A (p.Leu592=)
c.2112G>A (p.Leu704=)
c.2115G>A (p.Leu705=)
c.1839G>A (p.Leu613=)
c.2001G>A (p.Leu667=)
c.2097G>A (p.Leu699=)
n.516G>A
c.2058G>A (p.Leu686=)
c.1890G>A (p.Leu630=)
gnomAD v4
21g.25891766_25891768delCA2654122406APPn.2134_2136del
n.564_566del
n.833_835del
c.2167_2169del (p.Leu723del)
c.1942_1944del (p.Leu648del)
c.1774_1776del (p.Leu592del)
c.2110_2112del (p.Leu704del)
c.2113_2115del (p.Leu705del)
c.1837_1839del (p.Leu613del)
c.1999_2001del (p.Leu667del)
c.2095_2097del (p.Leu699del)
n.514_516del
c.2056_2058del (p.Leu686del)
c.1888_1890del (p.Leu630del)
gnomAD v4
21g.25891765A=CA2383551605APPn.2135T=
n.565T=
n.834T=
c.2168T= (p.Leu723=)
c.1943T= (p.Leu648=)
c.1775T= (p.Leu592=)
c.2111T= (p.Leu704=)
c.2114T= (p.Leu705=)
c.1838T= (p.Leu613=)
c.2000T= (p.Leu667=)
c.2096T= (p.Leu699=)
n.515T=
c.2057T= (p.Leu686=)
c.1889T= (p.Leu630=)
21g.25891765A>CCA409805511APPn.2135T>G
n.565T>G
n.834T>G
c.2168T>G (p.Leu723Arg)
c.1943T>G (p.Leu648Arg)
c.1775T>G (p.Leu592Arg)
c.2111T>G (p.Leu704Arg)
c.2114T>G (p.Leu705Arg)
c.1838T>G (p.Leu613Arg)
c.2000T>G (p.Leu667Arg)
c.2096T>G (p.Leu699Arg)
n.515T>G
c.2057T>G (p.Leu686Arg)
c.1889T>G (p.Leu630Arg)
21g.25891765A>GCA225513APPn.2135T>C
n.565T>C
n.834T>C
c.2168T>C (p.Leu723Pro)
c.1943T>C (p.Leu648Pro)
c.1775T>C (p.Leu592Pro)
c.2111T>C (p.Leu704Pro)
c.2114T>C (p.Leu705Pro)
c.1838T>C (p.Leu613Pro)
c.2000T>C (p.Leu667Pro)
c.2096T>C (p.Leu699Pro)
n.515T>C
c.2057T>C (p.Leu686Pro)
c.1889T>C (p.Leu630Pro)
ClinVar dbSNP gnomAD v4
21g.25891765A>TCA409805512APPn.2135T>A
n.565T>A
n.834T>A
c.2168T>A (p.Leu723Gln)
c.1943T>A (p.Leu648Gln)
c.1775T>A (p.Leu592Gln)
c.2111T>A (p.Leu704Gln)
c.2114T>A (p.Leu705Gln)
c.1838T>A (p.Leu613Gln)
c.2000T>A (p.Leu667Gln)
c.2096T>A (p.Leu699Gln)
n.515T>A
c.2057T>A (p.Leu686Gln)
c.1889T>A (p.Leu630Gln)
21g.25891766G>ACA511685980APPn.2134C>T
n.564C>T
n.833C>T
c.2167C>T (p.Leu723=)
c.1942C>T (p.Leu648=)
c.1774C>T (p.Leu592=)
c.2110C>T (p.Leu704=)
c.2113C>T (p.Leu705=)
c.1837C>T (p.Leu613=)
c.1999C>T (p.Leu667=)
c.2095C>T (p.Leu699=)
n.514C>T
c.2056C>T (p.Leu686=)
c.1888C>T (p.Leu630=)
gnomAD v4
21g.25891766G>CCA409805513APPn.2134C>G
n.564C>G
n.833C>G
c.2167C>G (p.Leu723Val)
c.1942C>G (p.Leu648Val)
c.1774C>G (p.Leu592Val)
c.2110C>G (p.Leu704Val)
c.2113C>G (p.Leu705Val)
c.1837C>G (p.Leu613Val)
c.1999C>G (p.Leu667Val)
c.2095C>G (p.Leu699Val)
n.514C>G
c.2056C>G (p.Leu686Val)
c.1888C>G (p.Leu630Val)
21g.25891766G>TCA409805514APPn.2134C>A
n.564C>A
n.833C>A
c.2167C>A (p.Leu723Met)
c.1942C>A (p.Leu648Met)
c.1774C>A (p.Leu592Met)
c.2110C>A (p.Leu704Met)
c.2113C>A (p.Leu705Met)
c.1837C>A (p.Leu613Met)
c.1999C>A (p.Leu667Met)
c.2095C>A (p.Leu699Met)
n.514C>A
c.2056C>A (p.Leu686Met)
c.1888C>A (p.Leu630Met)
21g.25891767C>ACA409805515APPn.2133G>T
n.563G>T
n.832G>T
c.2166G>T (p.Met722Ile)
c.1941G>T (p.Met647Ile)
c.1773G>T (p.Met591Ile)
c.2109G>T (p.Met703Ile)
c.2112G>T (p.Met704Ile)
c.1836G>T (p.Met612Ile)
c.1998G>T (p.Met666Ile)
c.2094G>T (p.Met698Ile)
n.513G>T
c.2055G>T (p.Met685Ile)
c.1887G>T (p.Met629Ile)
21g.25891767C>GCA409805516APPn.2133G>C
n.563G>C
n.832G>C
c.2166G>C (p.Met722Ile)
c.1941G>C (p.Met647Ile)
c.1773G>C (p.Met591Ile)
c.2109G>C (p.Met703Ile)
c.2112G>C (p.Met704Ile)
c.1836G>C (p.Met612Ile)
c.1998G>C (p.Met666Ile)
c.2094G>C (p.Met698Ile)
n.513G>C
c.2055G>C (p.Met685Ile)
c.1887G>C (p.Met629Ile)
21g.25891767C>TCA409805517APPn.2133G>A
n.563G>A
n.832G>A
c.2166G>A (p.Met722Ile)
c.1941G>A (p.Met647Ile)
c.1773G>A (p.Met591Ile)
c.2109G>A (p.Met703Ile)
c.2112G>A (p.Met704Ile)
c.1836G>A (p.Met612Ile)
c.1998G>A (p.Met666Ile)
c.2094G>A (p.Met698Ile)
n.513G>A
c.2055G>A (p.Met685Ile)
c.1887G>A (p.Met629Ile)
21g.25891768A>CCA409805520APPn.2132T>G
n.562T>G
n.831T>G
c.2165T>G (p.Met722Arg)
c.1940T>G (p.Met647Arg)
c.1772T>G (p.Met591Arg)
c.2108T>G (p.Met703Arg)
c.2111T>G (p.Met704Arg)
c.1835T>G (p.Met612Arg)
c.1997T>G (p.Met666Arg)
c.2093T>G (p.Met698Arg)
n.512T>G
c.2054T>G (p.Met685Arg)
c.1886T>G (p.Met629Arg)
gnomAD v4

Number of alleles fetched